A novel PTPN11 mutation in LEOPARD syndrome.
D000328:Adult; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D044542:LEOPARD Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D017434:Protein Structure, Tertiary / Q000235:genetics; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000737:chemistry / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; D004247:DNA; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases